Browsing by Author "Teber S."

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    Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes
    (W.B. Saunders Ltd, 2022) Yılmaz Ü.; Gücüyener K.; Yavuz M.; Öncel İ.; Canpolat M.; Saltık S.; Ünver O.; Çıtak Kurt A.N.; Tosun A.; Yılmaz S.; Özgör B.; Erol İ.; Öztoprak Ü.; Elitez D.A.; Direk M.Ç.; Bodur M.; Teber S.; Anlar B.; Aykol D.; Yıldız E.P.; Yarar C.; Kara B.; Haspolat; İncecik F.; Kutluk G.; Dilber C.; Dundar N.O.; Tan H.; Demir E.; Dursun B.D.; Dilek T.D.; Türkdoğan D.; Yalnızoğlu D.; Akbaş S.; Güleç A.; Yılmaz D.; Ayanoğlu M.; Kanmaz S.; Güngör S.; Öztürk G.; Besen; Haliloğlu G.; Karaca N.B.; Öztürk S.; Yüksel D.; Gürkaş E.; Oktay S.; Serin H.M.; Karadağ M.; Hakkı Akbeyaz İ.; Yiş U.; Polat B.G.; Okan M.S.; Bektaş Ö.; Orgun L.T.; Günbey C.; Per H.; Gültutan P.; Öztürk S.B.; Aksoy E.; Akyüz G.; Tekgül H.; Kürekçi F.; Kurul A.S.H.; Çarman K.B.; Alikılıç D.; Duman Ö.; Kömür M.; Yıldırım M.; Alıcı N.; Gümüş H.; Polat M.; Konuşkan B.; Güngör O.; Mert G.G.; Edizer S.; Mıhçı F.; Öztürk S.T.; Toker R.T.; Arslan M.; Şahin S.; Gencpinar P.; Yıldırım E.; Yüksel E.; Ekici A.; Deniz A.; Yayici Köken Ö.; Okuyaz Ç.; Süt N.Y.; Atasoy E.; Solmaz İ.; Yetkin M.F.; Bilgin N.; Atasever A.K.; Tekin H.G.; Dokurel İ.; Özçelik A.; Aksoy A.; Türköz A.N.; Cavusoglu D.; Özkan M.; Tekin E.; Şahin T.U.; Ünalp A.; Koç H.; Sarıgeçili E.; Sarıtaş S.; Ayça S.; Kayılıoğlu H.; Şenoğlu M.Ç.; Kamaşak T.; Asadova N.; Keskin F.; Karaoğlu P.; İpek R.; Acer H.
    Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. Aim: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. Method: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Türkiye. Clinical and paraclinical features were compared between patients with disease onset before 12 years (earlier onset) and ≥12 years (later onset) as well as between our current (2015–2021) and previous (<2015) cohorts. Results: A total of 634 children (456 girls) were enrolled, 89 (14%) were of earlier onset. The earlier-onset group had lower female/male ratio, more frequent initial diagnosis of acute disseminated encephalomyelitis (ADEM), more frequent brainstem symptoms, longer interval between the first two attacks, less frequent spinal cord involvement on magnetic resonance imaging (MRI), and lower prevalence of cerebrospinal fluid (CSF)-restricted oligoclonal bands (OCBs). The earlier-onset group was less likely to respond to initial disease-modifying treatments. Compared to our previous cohort, the current series had fewer patients with onset <12 years, initial presentation with ADEM-like features, brainstem or cerebellar symptoms, seizures, and spinal lesions on MRI. The female/male ratio, the frequency of sensorial symptoms, and CSF-restricted OCBs were higher than reported in our previous cohort. Conclusion: Pediatric MS starting before 12 years was less common than reported previously, likely due to exclusion of patients with antibody-mediated diseases. The results underline the importance of antibody testing and indicate pediatric MS may be a more homogeneous disorder and more similar to adult-onset MS than previously thought. © 2022 European Paediatric Neurology Society
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    A multicenter study of radiologically isolated syndrome in children and adolescents: Can we predict the course?
    (Elsevier B.V., 2023) Yılmaz D.; Teber S.; Gültutan P.; Yıldırım M.; Bektaş Ö.; Alikılıç D.; Güngör M.; Kara B.; Öncel İ.; Dilek T.D.; Saltık S.; Kanmaz S.; Yılmaz S.; Tekgül H.; Çavuşoğlu D.; Karaoğlu P.; Yılmaz Ü.; Orak S.A.; Güngör O.; Anlar B.
    Objectives: To evaluate clinical characteristics, imaging features and etiological profile of Radiologically Isolated Syndrome (RIS) along with clinical and radiological follow-up. Methods: Demographic, clinical and radiological data of patients younger than 18 years fulfilling the criteria for RIS were retrospectively analyzed. RIS was defined by the detection of lesions meeting the revised 2010 McDonald Criteria for dissemination in space on magnetic resonance imaging (MRI) in the absence of any symptoms of demyelinating disease or an alternative cause for the MRI findings. Results: There were total 69 patients (38 girls, 31 boys). The median age at index MRI was 15.7 years, and median follow-up time was 28 months. The most common reason for neuroimaging was headache (60.9%). A first clinical event occurred with median 11 months in 14/69 (20%) of cases. Those with oligoclonal bands (OCB) in cerebrospinal fluid (CSF) and follow-up longer than 3 years were more likely to experience a clinical event (p<0.05): 25% of those with OCB manifested clinical symptoms within the first year and 33.3% within the first two years compared to 6.3% and 9.4%, respectively in those without OCB. Radiological evolution was not associated with any variables: age, sex, reason for neuroimaging, serum 25-hydroxyvitamin D level, elevated IgG index, OCB positivity, total number and localization of lesions, presence of gadolinium enhancement, achievement of 2005 criteria for DIS and duration of follow-up. Conclusion: Children and adolescents with RIS and CSF OCB should be followed-up for at least 3 years in order to detect any clinical symptoms suggestive of a demyelinating event. Because disease-modifying treatments are not approved in RIS and no consensus report justifies their use especially in pediatric RIS, close follow-up of OCB-positive patients is needed for early recognition of any clinical event and timely initiation of specific treatment. © 2023 Elsevier B.V.
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    Therapeutic implications of etiology-specific diagnosis of early-onset developmental and epileptic encephalopathies (EO-DEEs): A nationwide Turkish cohort study
    (W.B. Saunders Ltd, 2024) Kanmaz S.; Tekgul H.; Kayilioglu H.; Atas Y.; Kart P.O.; Yildiz N.; Gumus H.; Aydin K.; Olculu C.B.; Dogan D.E.T.; Per H.; Canpolat M.; Gulec A.; Yildirim N.; Turk E.; Celik N.; Ozturk S.; Kumandas S.; Kilic B.; Topcu Y.; Ozpinar E.; Coskun A.; Arslan M.; Akkoyunlu D.S.; Cine N.; Uzan G.S.; Gunay C.; Akyol D.; Ersoy O.; Direk M.C.; Komur M.; Kirkgoz H.; Karaoğlu P.; Ibis I.B.P.; Cerci C.; Orak A.; Oktay S.; Ayanoglu M.; Yildirim M.; Bektas O.; Serdaroglu E.; Yilmaz S.B.; Cankurt I.; Hirfanoglu T.; Arhan E.; Gencpinar P.; Dundar N.O.; Teber S.; Serin H.M.; Yilmaz S.; Tosun A.; Polat M.; Yilmaz U.; Unalp A.; Kara B.; Okuyaz C.; Yis U.; Hiz S.; Aktan G.; Gokben S.; Unay B.; Serdaroglu A.; Cansu A.
    Objective: To evaluate the etiology-specific diagnosis of early-onset developmental epileptic encephalopathies (EO-DEEs) in a nationwide Turkish cohort to determine the implications for therapeutic management. Methods: The cohort comprised 1450 patients who underwent EO-DEE. The utility of genetic testing was assessed with respect to the initial phases of next generation sequencing (NGS) (2005–2013) and the current NGS era (2014–2022). A predefined four-stepwise diagnostic model was evaluated using cost-effectiveness analysis. The diagnostic and potential therapeutic yields of the genetic tests were subsequently determined. Results: Gene-related EO-DEEs were identified in 48.3 % (n = 701) of the cohort: non-structural genetic (62.6 %), metabolic genetic (15.1 %), and structural genetic (14.1 %). The most common nonstructural genetic variants were SCN1A (n = 132, 18.8 %), CDKL5 (n = 30, 4.2 %), STXBP1 (n = 21, 2.9 %), KCNQ2 (n = 21, 2.9 %), and PCDH19 (n = 17, 2.4 %). The rate of ultra-rare variants (< 0.5 %) was higher in the NGS era (52 %) than that in the initial phase (36 %). The potential therapeutic yields with precision therapy and antiseizure drug modification were defined in 34.5 % and 56.2 % in genetic-EO-DEEs, respectively. The diagnostic model provided an etiology-specific diagnosis at a rate of 78.7 %: structural (nongenetic) (31.4 %), genetic (38.5 %), metabolic (6.1 %), and immune-infectious (2.8 %). Based on a cost-effectiveness analysis, the presented diagnostic model indicated the early implementation of whole-exome sequencing for EO-DEEs. Significance: In the present cohort, the higher rate (48.3 %) of gene-related EO-DEE diagnoses in the NGS era provides a potential therapeutic management plan for more patients. © 2024 British Epilepsy Association
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    Corrigendum to “Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes” [Europ. J. Paediatr. Neurol. 41 (2022) 8–18 doi.org/10.1016/j.ejpn.2022.08.006, (S1090379822001246), (10.1016/j.ejpn.2022.08.006)]
    (W.B. Saunders Ltd, 2024) Yılmaz Ü.; Gücüyener K.; Yavuz M.; Ibrahim Oncel; Canpolat M.; Saltık S.; Ünver O.; Çıtak Kurt A.N.; Tosun A.; Yılmaz S.; Özgör B.; Ilknur Erol; Öztoprak Ü.; Elitez D.A.; Çobanoğulları Direk M.; Bodur M.; Teber S.; Anlar B.; Erol İ.; Aykol D.; Direk M.Ç.; Yıldız E.P.; Yarar C.; Kara B.; Haspolat; İncecik F.; Kutluk G.; Dilber C.; Dundar N.O.; Tan H.; Öncel İ.; Demir E.; Dursun B.D.; Dilek T.D.; Türkdoğan D.; Yalnızoğlu D.; Akbaş S.; Güleç A.; Yılmaz D.; Ayanoğlu M.; Kanmaz S.; Güngör S.; Öztürk G.; Besen; Haliloğlu G.; Karaca N.B.; Öztürk S.; Yüksel D.; Gürkaş E.; Oktay S.; Serin H.M.; Karadağ M.; Akbeyaz İ.H.; Yiş U.; Polat B.G.; Okan M.S.; Bektaş Ö.; Orgun L.T.; Günbey C.; Per H.; Gültutan P.; Öztürk S.B.; Aksoy E.; Akyüz G.; Tekgül H.; Kürekçi F.; Hız Kurul A.S.; Çarman K.B.; Alikılıç D.; Duman Ö.; Kömür M.; Yıldırım M.; Alıcı N.; Gümüş H.; Polat M.; Konuşkan B.; Güngör O.; Mert G.G.; Edizer S.; Mıhçı F.; Öztürk S.T.; Toker R.T.; Arslan M.; Şahin S.; Gencpinar P.; Yıldırım E.; Yüksel E.; Ekici A.; Deniz A.; Köken Ö.Y.; Okuyaz Ç.; Süt N.Y.; Atasoy E.; Solmaz İ.; Yetkin M.F.; Bilgin N.; Atasever A.K.; Tekin H.G.; Dokurel İ.; Özçelik A.; Aksoy A.; Türköz A.N.; Cavusoglu D.; Özkan M.; Tekin E.; Şahin T.U.; Ünalp A.; Koç H.; Sarıgeçili E.; Sarıtaş S.; Ayça S.; Kayılıoğlu H.; Şenoğlu M.Ç.; Kamaşak T.; Asadova N.; Keskin F.; Karaoğlu P.; İpek R.; Acer H.
    The authors would like to apologise for any inconvenience caused. © 2024 European Paediatric Neurology Society